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1975 1
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1999 10
2000 19
2001 5
2002 10
2003 12
2004 5
2005 6
2006 6
2007 8
2008 14
2009 11
2010 7
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2025 0

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265 results

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Page 1
Hearing Loss in Children: A Review.
Lieu JEC, Kenna M, Anne S, Davidson L. Lieu JEC, et al. JAMA. 2020 Dec 1;324(21):2195-2205. doi: 10.1001/jama.2020.17647. JAMA. 2020. PMID: 33258894 Review.
Hearing loss can be congenital, delayed onset, or acquired with possible etiologies including congenital infections, genetic causes including syndromic and nonsyndromic etiologies, and trauma, among others. Evaluation of hearing loss must
Hearing loss can be congenital, delayed onset, or acquired with possible etiologies including congenital infections, geneti
Pediatric hearing loss: common causes, diagnosis and therapeutic approach.
Alzahrani M, Tabet P, Saliba I. Alzahrani M, et al. Minerva Pediatr. 2015 Feb;67(1):75-90. Epub 2014 Oct 14. Minerva Pediatr. 2015. PMID: 25312238 Review.
The etiology of hearing loss can be classified according to its nature as sensorineural hearing loss (SNHL), conductive hearing loss (CHL) or mixed hearing loss (MHL). Congenital hearing loss could be geneti
The etiology of hearing loss can be classified according to its nature as sensorineural hearing loss (SNHL), con …
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
Hearing impairment not etiologically associated with clinical signs in other organs (non-syndromic) is genetically heterogeneous, so that over 120 genes are currently known to be involved. ...Four additional genes contribute 2.5% each one (MITF, KCNQ4, EYA4, SOX10)
Hearing impairment not etiologically associated with clinical signs in other organs (non-syndromic) is genetically heterogeneo
The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.
Ford CL, Riggs WJ, Quigley T, Keifer OP Jr, Whitton JP, Valayannopoulos V. Ford CL, et al. Hum Genet. 2023 Oct;142(10):1429-1449. doi: 10.1007/s00439-023-02595-5. Epub 2023 Sep 7. Hum Genet. 2023. PMID: 37679651 Free PMC article. Review.
Congenital hearing loss affects one in 500 newborns. Sequence variations in OTOF, which encodes the calcium-binding protein otoferlin, are responsible for 1-8% of congenital, nonsyndromic hearing loss and are the leading cause of auditory neurop …
Congenital hearing loss affects one in 500 newborns. Sequence variations in OTOF, which encodes the calcium-binding protein ot …
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Posukh OL, Maslova EA, Danilchenko VY, Zytsar MV, Orishchenko KE. Posukh OL, et al. Biomolecules. 2023 Oct 13;13(10):1521. doi: 10.3390/biom13101521. Biomolecules. 2023. PMID: 37892203 Free PMC article. Review.
One of the most common forms of genetic deafness has been predominantly associated with pathogenic variants in the GJB2 gene, encoding transmembrane protein connexin 26 (Cx26). ...Pathogenic variants in the GJB2 gene, resulting in amino acid substitutions scattered across …
One of the most common forms of genetic deafness has been predominantly associated with pathogenic variants in the GJB2 gene, encodin …
Genetic hearing impairment.
Ječmenica J, Bajec-Opančina A, Ječmenica D. Ječmenica J, et al. Childs Nerv Syst. 2015 Apr;31(4):515-9. doi: 10.1007/s00381-015-2628-3. Epub 2015 Feb 17. Childs Nerv Syst. 2015. PMID: 25686889 Review.
The purpose of this paper is to show in which genetic diseases and syndromes that hearing impairment can occur. DISCUSSION: A large number of pathological conditions, (genetic, infectious, and metabolic) can manifest themselves in a conductive or sensorineura …
The purpose of this paper is to show in which genetic diseases and syndromes that hearing impairment can occur. DISCUSSION: A …
[Hereditary hearing loss].
Tropitzsch A, Schade-Mann T, Gamerdinger P. Tropitzsch A, et al. HNO. 2023 Feb;71(2):131-142. doi: 10.1007/s00106-022-01254-x. Epub 2022 Dec 16. HNO. 2023. PMID: 36526931 Review. German.
Understanding the genetic basis of hearing loss is becoming increasingly relevant, as 50-70% of congenital hearing loss is hereditary and postlingual hearing loss is also often of hereditary origin. To date, more than 220 genes for …
Understanding the genetic basis of hearing loss is becoming increasingly relevant, as 50-70% of congenital hearing
Nonsyndromic hearing loss.
Van Laer L, Cryns K, Smith RJ, Van Camp G. Van Laer L, et al. Ear Hear. 2003 Aug;24(4):275-88. doi: 10.1097/01.AUD.0000079805.04016.03. Ear Hear. 2003. PMID: 12923419 Review.
The past decade has seen extremely rapid progress in the field of hereditary hearing loss. To date, 80 loci for nonsyndromic hearing loss have been mapped to the human genome. ...This opens perspectives for future therapeutic and/or preventive m …
The past decade has seen extremely rapid progress in the field of hereditary hearing loss. To date, 80 loci for nonsyndromi
Genetics of Hearing Loss--Nonsyndromic.
Chang KW. Chang KW. Otolaryngol Clin North Am. 2015 Dec;48(6):1063-72. doi: 10.1016/j.otc.2015.06.005. Epub 2015 Aug 11. Otolaryngol Clin North Am. 2015. PMID: 26275501 Review.
Eighty percent of nonsyndromic hearing losses are caused by autosomal-recessive (AR) inheritance, while most of the other 20% are caused by autosomal-dominant (AD) inheritance. ...High-throughput sequencing techniques, also called next-generation sequencing (NGS) or …
Eighty percent of nonsyndromic hearing losses are caused by autosomal-recessive (AR) inheritance, while most of the other 20% …
265 results